XLAS Patients with ARAS Mutations are Rare, but They may Experience Worse Symptoms, Small Study Shows

Patients with X-linked Alport syndrome who have mutations in their COL4A3 or COL4A4 genes — characteristic of autosomal recessive forms of the disease — are rare but may experience more severe disease,…

Report Identifies New COL4A4 Variant, Highlights Next Generation Sequencing

A new variant (mutation) of the COL4A4 gene was identified as the cause of autosomal recessive Alport syndrome (ARAS) in a young Chinese woman, according to a case report. The women also inherited a mutation in…

Alport Syndrome Screening in Adults May Be Critical to Enhance Care of Their Offspring, Study Suggests

Atypical presentation of Alport syndrome is common among mothers of children with the disease, researchers reported in a study published in the journal Nephron. This finding suggests that screening for Alport syndrome in those with persistent renal symptoms, in particular those with a family history of renal diseases, may…